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rs58163069

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs58163069(C;C)
Make rs58163069(C;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position52519778
GeneKRT5
is asnp
is mentioned by
dbSNPrs58163069
ebirs58163069
HLIrs58163069
Exacrs58163069
Varsomers58163069
Maprs58163069
PheGenIrs58163069
hapmaprs58163069
1000 genomesrs58163069
hgdprs58163069
ensemblrs58163069
gopubmedrs58163069
geneviewrs58163069
scholarrs58163069
googlers58163069
pharmgkbrs58163069
gwascentralrs58163069
openSNPrs58163069
23andMers58163069
23andMe allrs58163069
SNP Nexus

SNPshotrs58163069
SNPdbers58163069
MSV3drs58163069
GWAS Ctlgrs58163069
Max Magnitude0
OMIM148040
Desc
Variant0006
Relatedalso


ClinVar
Risk rs58163069(C;C)
Alt rs58163069(C;C)
Reference rs58163069(G;G)
Significance Pathogenic
Disease Epidermolysis bullosa simplex not provided
Variation info
Gene KRT5
CLNDBN Epidermolysis bullosa simplex, Koebner type not provided
Reversed 1
HGVS NC_000012.11:g.52913562C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015749.21, RCV000056607.1,